Placental steroid sulfatase deficiency: Association with arylsulfatase A deficiency

J. Vidgoff, M. M. Buxman, L. J. Shapiro

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    Abstract

    A family with an obstetric history consistent with placental sulfatase deficiency has X-linked ichthyosis. Steroid sulfatase deficiency was confirmed in placenta, leukocytes, and cultured skin fibroblasts of affected males; arylsulfatase A diminution was also observed in these tissues of both affected males and 2 generations of related females. No symptoms of metachromatic leukodystrophy are present in any family members. In this family, placental sulfatase deficiency, and arylsulfatase A pseudo-deficiency are nonallelic.

    Original languageEnglish
    Pages (from-to)434-443
    Number of pages10
    JournalAmerican journal of human genetics
    Volume34
    Issue number3
    StatePublished - Jan 1 1982

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